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    Beck, Christopher Pérez-Álvarez, Jose Carmelo Sigruener, Alexander Haubner, Frank Seidler, Till Aslanidis, Charalampos Strutz, Jürgen and Schmitz, Gerd 2014. Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss. European Archives of Oto-Rhino-Laryngology,

    Hannula, Samuli Bloigu, Risto Majamaa, Kari Sorri, Martti and Mäki-Torkko, Elina 2011. Audiogram configurations among older adults: Prevalence and relation to self-reported hearing problems. International Journal of Audiology, Vol. 50, Issue. 11, p. 793.

    Mohamed, Mostafa R. Alesutan, Ioana F&ouml;ller, Michael Sopjani, Mentor Bress, Andreas Baur, Manuela Salama, Ragaa H.M. Bakr, Mohamed S. Mohamed, Mohamed A. Blin, Nikolaus Lang, Florian and Pfister, Markus 2010. Functional Analysis of a Novel I71N Mutation in the <i>GJB2</i> Gene Among Southern Egyptians Causing Autosomal Recessive Hearing Loss. Cellular Physiology and Biochemistry, Vol. 26, Issue. 6, p. 959.

    Gopalarao, Deepika Kimberling, William J. Jesteadt, Walt Kelley, Philip M. Beauchaine, Kathryn L. and Cohn, Edward S. 2008. Is hearing loss due to mutations in the Connexin 26 gene progressive?. International Journal of Audiology, Vol. 47, Issue. 1, p. 11.

    Santarelli, Rosamaria Cama, Elona Scimemi, Pietro Dal Monte, Erica Genovese, Elisabetta and Arslan, Edoardo 2007. Audiological and electrocochleography findings in hearing-impaired children with connexin 26 mutations and otoacoustic emissions. European Archives of Oto-Rhino-Laryngology, Vol. 265, Issue. 1, p. 43.

    Pagarkar, Waheeda Bitner-Glindzicz, Maria Knight, Jeffrey and Sirimanna, Tony 2006. Late postnatal onset of hearing loss due to GJB2 mutations. International Journal of Pediatric Otorhinolaryngology, Vol. 70, Issue. 6, p. 1119.


Hearing loss associated with 35delG mutation in Connexin-26 (GJB2) gene: audiogram analysis

  • Fabrizio Salvinelli (a1), Manuele Casale (a1), Luca D’Ascanio (a1), Luca Firrisi (a1), Fabio Greco (a1) and Alfonso Baldi (a2)
  • DOI:
  • Published online: 01 January 2004

35delG is the most common mutation in the Connexin-26 gene, representing a major cause of autosomal recessive hearing loss. The aim of this study was to evaluate the relationship between the audiological phenotype and the 35delG mutation in 64 Sicilians with non-syndromic deafness. Pure-tone audiometry and a screening for 35delG mutation were performed. Audiograms were evaluated according to the classification of Liu and Xu. Thirteen homozygotes and nine heterozygotes for the investigated mutation were found. Symmetrical hearing loss was significantly (p=0.008) more common in homozygous subjects than in those without the Connexin-26 mutation. Profound-severe hypoacusia was found in 92.3 per cent of 35delG homozygous, 22.3 per cent of heterozygous and 58.7 per cent of 35delG absent patients. Residual shape audiograms were more frequent in homozygotes. A molecular analysis for the 35delG mutation should be performed in cases of symmetric, severe-profound congenital hearing loss, as a genetic cause is probable in such cases.

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The Journal of Laryngology & Otology
  • ISSN: 0022-2151
  • EISSN: 1748-5460
  • URL: /core/journals/journal-of-laryngology-and-otology
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